Last Posted: Aug 10, 2019
- Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.
Page Donna J, et al. Circulation research 2019 2 (4) 553-563
- Milroy disease
From NCATS Genetic and Rare Diseases Information Center
- Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas.
Connell F C, et al. Human genetics 2009 1 (6) 625-31
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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